Incidental Mutation 'R9257:Cpsf1'
| ID |
701972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R9257 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76484992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 546
(E546K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: E546K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: E546K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS1_N
|
92 |
684 |
7.2e-42 |
PFAM |
|
low complexity region
|
902 |
910 |
N/A |
INTRINSIC |
|
Pfam:CPSF_A
|
1071 |
1407 |
4.9e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160784
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161732
|
| SMART Domains |
Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
AA Change: E546K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
A |
2: 151,315,627 (GRCm39) |
D17V |
probably benign |
Het |
| 9130401M01Rik |
A |
C |
15: 57,892,414 (GRCm39) |
H128Q |
possibly damaging |
Het |
| Abcd2 |
T |
C |
15: 91,075,315 (GRCm39) |
Y166C |
possibly damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,588,575 (GRCm39) |
V546F |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,723,755 (GRCm39) |
V717E |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,407,150 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
C |
A |
9: 105,291,851 (GRCm39) |
E904* |
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,889,474 (GRCm39) |
S1523F |
possibly damaging |
Het |
| Cds1 |
A |
T |
5: 101,963,751 (GRCm39) |
I357F |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,174,451 (GRCm39) |
V13D |
possibly damaging |
Het |
| Copz2 |
A |
G |
11: 96,748,386 (GRCm39) |
D180G |
possibly damaging |
Het |
| Ctsm |
T |
C |
13: 61,684,413 (GRCm39) |
N320D |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,907,863 (GRCm39) |
T2713I |
probably benign |
Het |
| Fcrl5 |
T |
A |
3: 87,343,195 (GRCm39) |
S2T |
probably benign |
Het |
| Fgfr4 |
T |
C |
13: 55,315,974 (GRCm39) |
S796P |
unknown |
Het |
| Flrt3 |
A |
G |
2: 140,502,159 (GRCm39) |
F490L |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,910,359 (GRCm39) |
I3263F |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,301,648 (GRCm39) |
D3793V |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,590,604 (GRCm39) |
L269* |
probably null |
Het |
| Klhl32 |
A |
G |
4: 24,649,608 (GRCm39) |
V396A |
probably benign |
Het |
| Krt1c |
C |
T |
15: 101,724,926 (GRCm39) |
R228Q |
probably benign |
Het |
| Lcn9 |
T |
C |
2: 25,714,784 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
A |
C |
3: 94,310,676 (GRCm39) |
D538A |
probably benign |
Het |
| Lonp1 |
G |
T |
17: 56,927,516 (GRCm39) |
Y299* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,708,127 (GRCm39) |
V442D |
possibly damaging |
Het |
| Mettl25b |
G |
T |
3: 87,831,768 (GRCm39) |
Q397K |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,631 (GRCm39) |
V950A |
probably benign |
Het |
| Mndal |
A |
T |
1: 173,690,274 (GRCm39) |
V352E |
probably damaging |
Het |
| Mrpl55 |
T |
C |
11: 59,096,578 (GRCm39) |
V117A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,226,738 (GRCm39) |
S1430C |
unknown |
Het |
| Myh11 |
C |
A |
16: 14,087,120 (GRCm39) |
G119C |
|
Het |
| Myorg |
T |
C |
4: 41,499,030 (GRCm39) |
D200G |
probably benign |
Het |
| Neu1 |
A |
G |
17: 35,150,396 (GRCm39) |
D5G |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,610,837 (GRCm39) |
D512E |
probably benign |
Het |
| Nup214 |
T |
G |
2: 31,923,347 (GRCm39) |
V1292G |
possibly damaging |
Het |
| Nwd1 |
T |
A |
8: 73,397,566 (GRCm39) |
L602M |
probably damaging |
Het |
| Or6c3b |
C |
A |
10: 129,527,003 (GRCm39) |
L302F |
probably benign |
Het |
| Pck2 |
G |
T |
14: 55,782,702 (GRCm39) |
G379W |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,376,445 (GRCm39) |
V143M |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,489 (GRCm39) |
Y634N |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,100,281 (GRCm39) |
D183G |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,098 (GRCm39) |
Y1946F |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,139,018 (GRCm39) |
D1717N |
probably damaging |
Het |
| Ppp1r14bl |
G |
T |
1: 23,141,275 (GRCm39) |
T13N |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,685 (GRCm39) |
D86V |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,422,155 (GRCm39) |
V879E |
probably damaging |
Het |
| Prr23a3 |
T |
C |
9: 98,747,298 (GRCm39) |
V84A |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,985,346 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,754 (GRCm39) |
H634R |
probably benign |
Het |
| Rmi2 |
T |
C |
16: 10,653,089 (GRCm39) |
S46P |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,334,918 (GRCm39) |
E1350D |
|
Het |
| Slc6a6 |
T |
A |
6: 91,716,952 (GRCm39) |
F276Y |
possibly damaging |
Het |
| Sppl3 |
A |
G |
5: 115,221,532 (GRCm39) |
Y120C |
probably benign |
Het |
| Stard13 |
G |
T |
5: 150,985,956 (GRCm39) |
A518E |
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,929,409 (GRCm39) |
V49E |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 40,468,592 (GRCm39) |
W141R |
probably damaging |
Het |
| Tlx2 |
T |
A |
6: 83,047,035 (GRCm39) |
H9L |
unknown |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
G |
A |
5: 127,861,491 (GRCm39) |
Q877* |
probably null |
Het |
| Unc5d |
A |
T |
8: 29,215,174 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,075,661 (GRCm39) |
T4S |
probably benign |
Het |
| Uros |
A |
T |
7: 133,292,853 (GRCm39) |
I146N |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,463,131 (GRCm39) |
D119V |
probably benign |
Het |
| Washc2 |
C |
A |
6: 116,193,069 (GRCm39) |
Y138* |
probably null |
Het |
| Ywhah |
T |
A |
5: 33,184,095 (GRCm39) |
D99E |
probably benign |
Het |
| Zdbf2 |
G |
A |
1: 63,345,400 (GRCm39) |
G1260R |
probably damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,974 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,488,156 (GRCm39) |
C944S |
possibly damaging |
Het |
|
| Other mutations in Cpsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Cpsf1
|
APN |
15 |
76,484,416 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01013:Cpsf1
|
APN |
15 |
76,483,497 (GRCm39) |
nonsense |
probably null |
|
|
IGL01599:Cpsf1
|
APN |
15 |
76,480,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Cpsf1
|
APN |
15 |
76,487,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02291:Cpsf1
|
APN |
15 |
76,487,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Cpsf1
|
APN |
15 |
76,483,696 (GRCm39) |
nonsense |
probably null |
|
|
IGL02929:Cpsf1
|
APN |
15 |
76,486,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03402:Cpsf1
|
APN |
15 |
76,480,203 (GRCm39) |
splice site |
probably null |
|
|
R0005:Cpsf1
|
UTSW |
15 |
76,484,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
|
R0487:Cpsf1
|
UTSW |
15 |
76,481,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Cpsf1
|
UTSW |
15 |
76,487,857 (GRCm39) |
intron |
probably benign |
|
|
R0630:Cpsf1
|
UTSW |
15 |
76,486,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0780:Cpsf1
|
UTSW |
15 |
76,484,577 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1617:Cpsf1
|
UTSW |
15 |
76,486,570 (GRCm39) |
nonsense |
probably null |
|
|
R1717:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1889:Cpsf1
|
UTSW |
15 |
76,486,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1994:Cpsf1
|
UTSW |
15 |
76,487,360 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2168:Cpsf1
|
UTSW |
15 |
76,487,937 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2359:Cpsf1
|
UTSW |
15 |
76,481,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2697:Cpsf1
|
UTSW |
15 |
76,483,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
|
R3410:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
|
R3815:Cpsf1
|
UTSW |
15 |
76,485,349 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4030:Cpsf1
|
UTSW |
15 |
76,485,979 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4491:Cpsf1
|
UTSW |
15 |
76,481,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4615:Cpsf1
|
UTSW |
15 |
76,481,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5227:Cpsf1
|
UTSW |
15 |
76,483,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Cpsf1
|
UTSW |
15 |
76,486,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Cpsf1
|
UTSW |
15 |
76,481,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5552:Cpsf1
|
UTSW |
15 |
76,483,846 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5746:Cpsf1
|
UTSW |
15 |
76,484,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6319:Cpsf1
|
UTSW |
15 |
76,481,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6572:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6574:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6576:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6577:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6588:Cpsf1
|
UTSW |
15 |
76,481,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Cpsf1
|
UTSW |
15 |
76,486,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Cpsf1
|
UTSW |
15 |
76,487,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Cpsf1
|
UTSW |
15 |
76,486,739 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6954:Cpsf1
|
UTSW |
15 |
76,483,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Cpsf1
|
UTSW |
15 |
76,480,314 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7255:Cpsf1
|
UTSW |
15 |
76,481,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Cpsf1
|
UTSW |
15 |
76,481,475 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Cpsf1
|
UTSW |
15 |
76,484,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7446:Cpsf1
|
UTSW |
15 |
76,485,950 (GRCm39) |
missense |
probably benign |
|
|
R7612:Cpsf1
|
UTSW |
15 |
76,481,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7739:Cpsf1
|
UTSW |
15 |
76,484,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7878:Cpsf1
|
UTSW |
15 |
76,484,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Cpsf1
|
UTSW |
15 |
76,487,787 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8345:Cpsf1
|
UTSW |
15 |
76,485,690 (GRCm39) |
missense |
probably benign |
|
|
R8382:Cpsf1
|
UTSW |
15 |
76,485,151 (GRCm39) |
missense |
probably benign |
|
|
R8403:Cpsf1
|
UTSW |
15 |
76,484,483 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8968:Cpsf1
|
UTSW |
15 |
76,486,169 (GRCm39) |
nonsense |
probably null |
|
|
R8972:Cpsf1
|
UTSW |
15 |
76,481,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Cpsf1
|
UTSW |
15 |
76,484,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9776:Cpsf1
|
UTSW |
15 |
76,486,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Cpsf1
|
UTSW |
15 |
76,480,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGTCCAGCTCCATGATC -3'
(R):5'- GGACAGTCATTGCTCCTGTG -3'
Sequencing Primer
(F):5'- ATGATCTCCTGGCCAGTCTGTAG -3'
(R):5'- CATTGCTCCTGTGCGGAAAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation